5 research outputs found
Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2
No full textLate-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
No full textAutosomal recessive primary microcephaly due to ASPM mutations: An update (vol 39, pg 319, 2018)
No full textstatus: publishe
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
No full textArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families
